A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv849n152



Internal ID22816552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:27823846..27824163hg38UCSC Ensembl
chr10:28112775..28113092hg19UCSC Ensembl
Cytoband10p12.1
Allele length
AssemblyAllele length
hg38318
hg19318
Variant TypeCNV alu deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv3189581, nsv3178653
SamplesHG00512, NA19238, NA19239, HG00731, NA19240, HG00513, HG00514
Known GenesARMC4
MethodMerging
Sequencing
AnalysisMultiple analysis algorthms
PhasedSV,MsPAC, Multiple Illumina callers, BioNano Genomics software
PlatformIllumina HiSeq
See merged experiments
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)dgv849n152
Frequency
Sample Size9
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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